Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Abstract Background The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read massive parallel sequencing approaches do not allow the detection of lar...

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Bibliographic Details
Main Authors: Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Medical Genomics
Subjects:
Tandem repeats
Expansion
Single molecule sequencing
X-linked intellectual disability
Online Access:http://link.springer.com/article/10.1186/s12920-018-0446-7

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http://link.springer.com/article/10.1186/s12920-018-0446-7

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